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Protein

Helix-loop-helix protein 1

Gene

NHLH1

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: Annotation score: 4 out of 5-Experimental evidence at transcript leveli

Functioni

May serve as DNA-binding protein and may be involved in the control of cell-type determination, possibly within the developing nervous system.

GO - Molecular functioni

GO - Biological processi

  • cell differentiation Source: UniProtKB-KW
  • central nervous system development Source: ProtInc
  • positive regulation of transcription from RNA polymerase II promoter Source: NTNU_SB
  • transcription from RNA polymerase II promoter Source: GOC
Complete GO annotation...

Keywords - Molecular functioni

Developmental protein

Keywords - Biological processi

Differentiation, Transcription, Transcription regulation

Keywords - Ligandi

DNA-binding

Enzyme and pathway databases

SignaLinkiQ02575.

Names & Taxonomyi

Protein namesi
Recommended name:
Helix-loop-helix protein 1
Short name:
HEN-1
Alternative name(s):
Class A basic helix-loop-helix protein 35
Short name:
bHLHa35
Nescient helix loop helix 1
Short name:
NSCL-1
Gene namesi
Name:NHLH1
Synonyms:BHLHA35, HEN1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640 Componenti: Chromosome 1

Organism-specific databases

HGNCiHGNC:7817. NHLH1.

Subcellular locationi

  • Nucleus PROSITE-ProRule annotation

GO - Cellular componenti

Complete GO annotation...

Keywords - Cellular componenti

Nucleus

Pathology & Biotechi

Organism-specific databases

PharmGKBiPA31619.

Polymorphism and mutation databases

BioMutaiNHLH1.
DMDMi399885.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 133133Helix-loop-helix protein 1PRO_0000127197Add
BLAST

Proteomic databases

PRIDEiQ02575.

PTM databases

PhosphoSiteiQ02575.

Expressioni

Gene expression databases

BgeeiQ02575.
CleanExiHS_NHLH1.
ExpressionAtlasiQ02575. baseline and differential.
GenevisibleiQ02575. HS.

Organism-specific databases

HPAiCAB004755.
CAB033854.
HPA017943.

Interactioni

Subunit structurei

Efficient DNA binding requires dimerization with another bHLH protein.

Protein-protein interaction databases

BioGridi110872. 9 interactions.
IntActiQ02575. 3 interactions.
STRINGi9606.ENSP00000302189.

Structurei

3D structure databases

ProteinModelPortaliQ02575.
SMRiQ02575. Positions 82-132.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Domains and Repeats

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Domaini75 – 12753bHLHPROSITE-ProRule annotationAdd
BLAST

Compositional bias

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Compositional biasi66 – 716Poly-Arg

Sequence similaritiesi

Contains 1 bHLH (basic helix-loop-helix) domain.PROSITE-ProRule annotation

Phylogenomic databases

eggNOGiNOG264916.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000016617.
HOVERGENiHBG016345.
InParanoidiQ02575.
KOiK09075.
OMAiMMLNSDA.
OrthoDBiEOG7G1V82.
PhylomeDBiQ02575.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]

Sequencei

Sequence statusi: Complete.

Q02575-1 [UniParc]FASTAAdd to basket

« Hide

        10         20         30         40         50
MMLNSDTMEL DLPPTHSETE SGFSDCGGGA GPDGAGPGGP GGGQARGPEP
60 70 80 90 100
GEPGRKDLQH LSREERRRRR RATAKYRTAH ATRERIRVEA FNLAFAELRK
110 120 130
LLPTLPPDKK LSKIEILRLA ICYISYLNHV LDV
Length:133
Mass (Da):14,618
Last modified:July 1, 1993 - v1
Checksum:iFE90B574BE16D2C6
GO

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97507 Genomic DNA. Translation: AAA58634.1.
BC013789 mRNA. Translation: AAH13789.1.
CCDSiCCDS1204.1.
PIRiB46167. A45075.
RefSeqiNP_005589.1. NM_005598.3.
XP_011507885.1. XM_011509583.1.
XP_011507886.1. XM_011509584.1.
UniGeneiHs.30956.

Genome annotation databases

EnsembliENST00000302101; ENSP00000302189; ENSG00000171786.
GeneIDi4807.
KEGGihsa:4807.
UCSCiuc001fwa.2. human.

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
M97507 Genomic DNA. Translation: AAA58634.1.
BC013789 mRNA. Translation: AAH13789.1.
CCDSiCCDS1204.1.
PIRiB46167. A45075.
RefSeqiNP_005589.1. NM_005598.3.
XP_011507885.1. XM_011509583.1.
XP_011507886.1. XM_011509584.1.
UniGeneiHs.30956.

3D structure databases

ProteinModelPortaliQ02575.
SMRiQ02575. Positions 82-132.
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi110872. 9 interactions.
IntActiQ02575. 3 interactions.
STRINGi9606.ENSP00000302189.

PTM databases

PhosphoSiteiQ02575.

Polymorphism and mutation databases

BioMutaiNHLH1.
DMDMi399885.

Proteomic databases

PRIDEiQ02575.

Protocols and materials databases

DNASUi4807.
Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000302101; ENSP00000302189; ENSG00000171786.
GeneIDi4807.
KEGGihsa:4807.
UCSCiuc001fwa.2. human.

Organism-specific databases

CTDi4807.
GeneCardsiGC01P160336.
HGNCiHGNC:7817. NHLH1.
HPAiCAB004755.
CAB033854.
HPA017943.
MIMi162360. gene.
neXtProtiNX_Q02575.
PharmGKBiPA31619.
GenAtlasiSearch...

Phylogenomic databases

eggNOGiNOG264916.
GeneTreeiENSGT00760000119097.
HOGENOMiHOG000016617.
HOVERGENiHBG016345.
InParanoidiQ02575.
KOiK09075.
OMAiMMLNSDA.
OrthoDBiEOG7G1V82.
PhylomeDBiQ02575.

Enzyme and pathway databases

SignaLinkiQ02575.

Miscellaneous databases

GeneWikiiNHLH1.
GenomeRNAii4807.
NextBioi18524.
PROiQ02575.
SOURCEiSearch...

Gene expression databases

BgeeiQ02575.
CleanExiHS_NHLH1.
ExpressionAtlasiQ02575. baseline and differential.
GenevisibleiQ02575. HS.

Family and domain databases

Gene3Di4.10.280.10. 1 hit.
InterProiIPR011598. bHLH_dom.
[Graphical view]
PfamiPF00010. HLH. 1 hit.
[Graphical view]
SMARTiSM00353. HLH. 1 hit.
[Graphical view]
SUPFAMiSSF47459. SSF47459. 1 hit.
PROSITEiPS50888. BHLH. 1 hit.
[Graphical view]
ProtoNetiSearch...

Publicationsi

« Hide 'large scale' publications
  1. "HEN1 and HEN2: a subgroup of basic helix-loop-helix genes that are coexpressed in a human neuroblastoma."
    Brown L., Espinosa R. III, le Beau M.M., Siciliano M.J., Baer R.
    Proc. Natl. Acad. Sci. U.S.A. 89:8492-8496(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA].
    Tissue: Brain.
  2. "A comparative structural characterization of the human NSCL-1 and NSCL-2 genes. Two basic helix-loop-helix genes expressed in the developing nervous system."
    Lipkowitz S., Gobel V., Varterasian M.L., Nakahara K., Tchorz K., Kirsch I.R.
    J. Biol. Chem. 267:21065-21071(1992) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA].
    Tissue: Brain.
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA].
    Tissue: Eye.

Entry informationi

Entry nameiHEN1_HUMAN
AccessioniPrimary (citable) accession number: Q02575
Entry historyi
Integrated into UniProtKB/Swiss-Prot: July 1, 1993
Last sequence update: July 1, 1993
Last modified: July 22, 2015
This is version 131 of the entry and version 1 of the sequence. [Complete history]
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. Human chromosome 1
    Human chromosome 1: entries, gene names and cross-references to MIM
  2. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  3. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3

Similar proteinsi

Links to similar proteins from the UniProt Reference Clusters (UniRef) at 100%, 90% and 50% sequence identity:
100%UniRef100 combines identical sequences and sub-fragments with 11 or more residues from any organism into Uniref entry.
90%UniRef90 is built by clustering UniRef100 sequences that have at least 90% sequence identity to, and 80% overlap with, the longest sequence (a.k.a seed sequence).
50%UniRef50 is built by clustering UniRef90 seed sequences that have at least 50% sequence identity to, and 80% overlap with, the longest sequence in the cluster.